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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessEctopia-Lentis syndrome, differential diagnosis


Short information

A comprehensive differential diagnostic panel containing 4 or altogether 7 curated genes according to the clinical suspicion Ectopia-lentis syndrome

Number of genes
4 Accredited laboratory test
Examined sequence length
11,9 kb (Core-/Core-canditate-Genes)
16,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + Sanger


Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Variable eye disorder with dislocation of lens, often causing significant reduction in visual acuity


  • Abnormal stretching of zonular fibers, lens dislocation, visual impairment
  • Allelic: Acromicric dysplasia (FBN1)
  • Allelic: Geleophysic dysplasia 2 (FBN1)
  • Allelic: Glaucoma 3, primary congenital, D (LTBP2)
  • Allelic: MASS syndrome (FBN1)
  • Allelic: Marfan lipodystrophy syndrome (FBN1)
  • Allelic: Marfan syndrome (FBN1)
  • Allelic: Stiff skin syndrome (FBN1)
  • Allelic: Weill-Marchesani syndrome 2, dominant (FBN1)
  • Ectopia lentis et pupillae (ADAMTSL4)
  • Ectopia lentis syndrome (FBN1)
  • Ectopia lentis, isolated, autosomal recessive (ADAMTSL4)
  • Familial ectopia lentis (FBN1)
  • Homocystinuria, B6-responsive + nonresponsive types (CBS)
  • Hyperlysinemia (AASS)
  • Isolated ectopia lentis (FBN1)
  • Marfan + Shprintzen-Goldberg syndrome, craniosynostosis, mental retardation (FBN1)
  • Microspherophakia and/or megalocornea, with ectopia lentis with/-out secondary glaucoma (LTBP2)
  • Sulfite oxidase deficiency (SUOX)
  • Thrombosis, hyperhomocysteinemic (CBS)
  • Weill-Marchesani syndrome 3, AR (LTBP2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined